Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia

Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia

Abstract Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a rare disorder, caused by bialellic mutations of the vitamin D receptor (VDR) gene, sometimes associated with alopecia. The aim of this study is to elucidate the mechanism of functional disruption of a novel mutation, detected...

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Bibliographic Details
Main Authors: Mayuko Tamura, Michiyasu Ishizawa, Tsuyoshi Isojima, Samim Özen, Akira Oka, Makoto Makishima, Sachiko Kitanaka
Format: Article
Language:English
Published: Nature Publishing Group 2017-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-05081-x

Internet

https://doi.org/10.1038/s41598-017-05081-x

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